E151K (p.Glu151Lys) variant of MED13L (Q71F56)
E151K (p.Glu151Lys) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Dextro-looped transposition of the great arteries; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E151K (p.Glu151Lys) variant details
- p.Glu151Lys
- rs773315749
- ClinGen CA6811675
- NCI-TCGA Cosmic COSV5611
- ClinVar RCV000695306
- Benign/Likely benign
- Dextro-looped transposition of the great arteries; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.28
- ESM-1b 0.28
- AlphaMissense 0.10
- CADD 23.70
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Benign/Likely benign (Dextro-looped transposition of the great arteries; Inborn geneti)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)